Canonical Allele Identifier: CA364720960

Gene: SLC17A5

Linked Data

• MyVariant Identifiers: chr6:g.73610437del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73610438del , CM000668.2:g.73610438del	GRCh38
NC_000006.11:g.74320161del , CM000668.1:g.74320161del	GRCh37
NC_000006.10:g.74376882del	NCBI36
NG_008272.1:g.48578del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.1222del MANE Select	ENSP00000348019.5:p.Ser408LeufsTer?
ENST00000355773.5:c.1222del	ENSP00000348019.5:p.Ser408LeufsTer?
NM_012434.4:c.1222del	NP_036566.1:p.Ser408LeufsTer?
XM_005248710.2:c.1171del	XP_005248767.1:p.Ser391LeufsTer?
XM_005248711.1:c.1024del	XP_005248768.1:p.Ser342LeufsTer?
XM_011535750.1:c.1111+4878del	XP_011534052.1:n.1111+4878del
NM_012434.5:c.1222del MANE Select	NP_036566.1:p.Ser408LeufsTer?
NM_001382629.1:c.991del	NP_001369558.1:p.Ser331LeufsTer?
NM_001382630.1:c.1222del	NP_001369559.1:p.Ser408LeufsTer29
NM_001382631.1:c.1243del	NP_001369560.1:p.Ser415LeufsTer?
NM_001382632.1:c.1135del	NP_001369561.1:p.Ser379LeufsTer?
NM_001382633.1:c.1222del	NP_001369562.1:p.Ser408LeufsTer?
NM_001382634.1:c.1063del	NP_001369563.1:p.Ser355LeufsTer?
NM_001382635.1:c.1219del	NP_001369564.1:p.Ser407LeufsTer?
NM_001382636.1:c.904del	NP_001369565.1:p.Ser302LeufsTer?